孕妇无创产前检测结果的大样本分析  

Results of non-invasive prenatal testing to pregnant women:a large sample analysis

作　　者：张禾璇 宋咏刚 杨雪[1] Hexuan Zhang;Yonggang Song;Xue Yang(Department of Eugenics and Genetics,Guiyang Maternal and Child Health Care Hospital,Guiyang 550001,Guizhou Province,China)

机构地区：[1]贵州省贵阳市妇幼保健院优生遗传科,贵阳550001

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第6期685-691,共7页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：贵州省科学技术厅科技计划项目临床专项(2022J005);贵阳市卫生和计划生育委员会高层次创新型青年卫生人才培养计划项目([2018]筑卫计科技合同字第017号)。

摘　　要：目的探讨孕妇无创产前检测(NIPT)大样本筛查结果分析及异常情况。方法选取2018年1月1日至2020年12月31日,在贵阳市妇幼保健院完成NIPT筛查的22908例单胎妊娠孕妇为研究对象。对NIPT筛查结果显示高风险者,进一步采取羊水穿刺术进行胎儿染色体核型分析产前诊断。回顾性收集所有孕妇年龄、NIPT筛查指征、产前诊断结果等临床病例资料。本研究遵循的程序符合贵阳市妇幼保健院医学伦理委员会规定,并通过该伦理委员会审查及批准(审批文号:2021-56号)。结果①本组22908例孕妇中,NIPT筛查指征包括:高龄(预产期年龄≥35岁)孕妇为7286例(31.81%),血清学筛查结果异常者为2491例(10.87%),因错过血清学筛查时间进行NIPT筛查者为610例(2.66%),其他NIPT筛查指征(不良孕产史、胎儿超声提示脉络从囊肿、双胎之一停止发育等)为563例(2.46%),无NIPT指征而自愿要求进行NIPT者为11958例(52.20%)。②本组22908例孕妇中,NIPT筛查结果为高风险者为363例(1.58%),包括72例(0.31%)胎儿21-三体综合征(TS)、20例(0.09%)18-TS、10例(0.04%)13-TS与131例(0.57%)性染色体非整倍体(SCA)及130例(0.57%)其他染色体异常高风险;分别占363例NIPT高风险孕妇的19.83%(72/363)、5.51%(20/363)、2.75%(10/363)、36.09%(131/363)与35.81%(130/363)。③363例NIPT高风险孕妇中,298例(82.09%)接受羊水穿刺术进行胎儿染色体核型分析产前诊断,其结果与NIPT结果相符者共计186例(62.42%)。胎儿21-、18-、13-TS与SCA及其他染色体异常者的NIPT筛查确诊率分别为93.06%(67/72)、90.00%(18/20)、88.89%(8/9)、55.56%(70/126)、32.40%(23/71)。确诊胎儿21-TS、SCA的孕妇中,高龄孕妇分别占71.64%(48/67)与55.71%(39/70)。结论本研究纳入孕妇的NIPT高风险筛查结果以胎儿SCA、其他染色体异常与21-TS为主,孕妇高龄是胎儿21-TS、SCA高风险的重要影响因素。NIPT筛查结果准确度与胎儿染色体异常类型有关。Objective To investigate the analysis and abnormalities of non-invasive prenatal testing(NIPT)results in a large sample of pregnant women.Methods A total of 22908 pregnant women who underwent NIPT in Guiyang Maternal and Child Health Care Hospital from January 1,2018 to December 31,2020 were selected as research subjects.Further prenatal diagnosis by amniocentesis for karyotype analysis was performed on those with high risk of NIPT results.The age,NIPT indication,prenatal diagnosis results and other clinical data of all pregnant women were retrospectively collected.The procedure followed in this study was in accordance with the regulations of the Ethics Committee of Guiyang Maternal and Child Health Care Hospital,and was reviewed and approved by the Ethics Committee(Approval No.2021-56).Results①Among 22908 pregnant women,NIPT indications included:7286 cases(31.81%)of pregnant women with advanced age(≥35 years old at expected date of delivery),2491 cases(10.87%)with abnormal serological screening results,610 cases(2.66%)received NIPT due to missed serological screening,563 cases(2.46%)with other NIPT indications(poor pregnancy and labor history,choroids from cysts in fetal ultrasound,termination of one of the twins,etc.),and 11958 cases(52.20%)volunteered for NIPT without NIPT indication.②Among 22908 pregnant women,363 cases(1.58%)were with high risk of NIPT,including 72 cases(0.31%)of high risk of fetal 21-trisomy syndrome(TS),20 cases(0.09%)of fetal 18-TS,10 cases(0.04%)of 13-TS,131 cases(0.57%)of sex chromosome aneuploidy(SCA)and 130 cases(0.57%)of other chromosomal abnormalities,respectively,accounting for 19.83%(72/363),5.51%(20/363),2.75%(10/363),36.09%(131/363)and 35.81%(130/363)of the high risk of NIPT.③Among 363 cases with high risk of NIPT,298 cases(82.09%)received amniocentesis chromosome karyotype analysis.There were 186 cases(62.42%)with prenatal diagnosis results consistent with NIPT results.The diagnostic rate of NIPT screening for fetal 21-TS,18-TS,13-TS,SCA and other chromosomal abnormalit

关 键 词：无创产前检测 产前诊断 染色体畸变 性染色体畸变 母体血清学筛查 孕妇 胎儿 

分 类 号：R714.5[医药卫生—妇产科学]